Autosomal recessive polycystic kidney disease: outcomes from a single-center experience
Autosomal recessive polycystic kidney disease: outcomes from a single-center experience
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DOI：
10.1007/s00467-002-1021-0
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发表时间：
2003-02-01
影响因子：
3
通讯作者：
Guay-Woodford, LM
中科院分区：
文献类型：
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作者：
Capisonda, R;Phan, V;Guay-Woodford, LM
常染色体隐性多囊肾病（ARPKD）是一种比较常见的儿童多囊肾病，其发病率为1:20 000活产。以前的报告主要来自欧洲裔人群，表明临床表现和病程变化很大。采用回顾性研究设计，我们试图确定我们的多种族患者队列的临床过程和结果是否与已发表的文献不同。我们对31例ARPKD患者的临床、组织病理学和影像学记录进行了10年（1990-2000）回顾性研究。患者被诊断为0 - 14岁，其中17例（55%）在出生后1个月内出现。平均随访67个月，末次随访年龄0.5 ~ 16岁。在17例诊断为新生儿的患者中，11例（65%）有呼吸功能不全并发气胸。2例在出生后不久死亡，2例在出生后一年内因呼吸衰竭死亡。在13例新生儿幸存者中，7例（54%）发展为进行性肾功能不全，而14例（43%）超过1月龄的儿童中有6例发展为肾功能不全。55%的患者存在高血压，几乎所有的新生儿幸存者都需要抗高血压治疗。27例存活1年的患者中有10例（37%）存在门静脉高压症。在我们的多种族ARPKD队列中，1年生存率（87%）和临床变异性与先前报道的相当。随着最近PKHD1基因的鉴定，对致病突变的表征应该为这种表型变异的分子基础提供新的见解。
Autosomal recessive polycystic kidney disease (ARPKD) is a relatively common form of pediatric polycystic kidney disease with an incidence of 1:20,000 live births. Previous reports, primarily from populations of European origin, indicate that the clinical presentation and disease course are quite variable. Using a retrospective study design, we sought to determine whether the clinical course and outcome of our mufti-ethnic patient cohort differs from the published literature. A 10-year (1990-2000) retrospective study was conducted in which we reviewed the clinical, histopathological, and imaging records of our 31 ARPKD patients. Patients were diagnosed between 0 and 14 years of age, with 17 (55%) presenting within the 1st month of life. The mean follow-up was 67 months and age at last follow-up ranged from 0.5 to 16 years. Of the 17 patients diagnosed as neonates, 11 (65%) had respiratory insufficiency complicated by pneumothoraces. Two died shortly after birth and 2 died within the 1st year of life due to respiratory failure. Among the 13 neonatal survivors, 7 (54%) developed progressive renal insufficiency, whereas 6 of 14 (43%) of those children who presented beyond 1 month of age developed renal insufficiency. Hypertension was present in 55% of our patients, with nearly all neonatal survivors requiring antihypertensive management. Evidence of portal hypertension was found in 10 (37%) of the 27 patients who survived the 1st year of life. In our mufti-ethnic ARPKD cohort, the 1-year survival rate (87%) and the clinical variability are comparable to those previously reported. With the recent identification of the PKHD1 gene, characterization of disease-causing mutations should provide new insights into the molecular basis for this phenotypic variability.